Show simple item record

dc.contributor.authorChellappa, Vasant
dc.contributor.authorTaylor, Kendra N
dc.contributor.authorPedrick, Kathryn
dc.contributor.authorDonado, Carlos
dc.contributor.authorNetravali, Ilka Arun
dc.contributor.authorHaider, Khaleda
dc.contributor.authorCariappa, Annaiah
dc.contributor.authorDalomba, Natasha F.
dc.contributor.authorPillai, Shiv Subramaniam
dc.date.accessioned2013-05-09T15:05:36Z
dc.date.issued2013
dc.identifier.citationChellappa, Vasant, Kendra N. Taylor, Kathryn Pedrick, Carlos Donado, Ilka Arun Netravali, Khaleda Haider, Annaiah Cariappa, Natasha F. Dalomba, and Shiv Subramaniam Pillai. 2013. M89V Sialic acid acetyl esterase (SIAE) and all other non-synonymous common variants of this gene are catalytically normal. PLoS ONE 8(1): e53453.en_US
dc.identifier.issn1932-6203en_US
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:10612947
dc.description.abstractCatalytically defective rare variants of Sialic acid Acetyl Esterase (SIAE) have previously been linked to autoimmunity. Studies presented here confirm that the M89V SIAE protein and all other products of common variant alleles of SIAE are catalytically normal. Although overexpressing transfected non-lymphoid cells secrete small amounts of SIAE that can associate with the cell surface, normal human lymphocytes do not exhibit cell surface SIAE, supporting genetic evidence in mice that indicates that this protein functions in a lymphocyte intrinsic manner. Analyses of the plasma proteome also indicate that SIAE is not secreted in vivo. A re-analysis exclusively of catalytically defective rare variant alleles of SIAE in subjects in which this gene was completely sequenced confirmed an association of SIAE with autoimmunity. A subset of catalytically defective rare variant SIAE alleles has previously been typed in a large genotyping study comparing a diverse group of disease subjects and controls; our re-analysis of this data shows that catalytically defective alleles are enriched in disease subjects. These data suggest that SIAE may be associated with autoimmunity and that further study of catalytically defective rare variant SIAE alleles in terms of autoimmune disease susceptibility is strongly warranted.en_US
dc.language.isoen_USen_US
dc.publisherPublic Library of Scienceen_US
dc.relation.isversionofdoi:10.1371/journal.pone.0053453en_US
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC3538537/pdf/en_US
dash.licenseLAA
dc.subjectBiologyen_US
dc.subjectBiochemistryen_US
dc.subjectGeneticsen_US
dc.subjectImmunologyen_US
dc.subjectAutoimmunityen_US
dc.subjectGenetics of the Immune Systemen_US
dc.subjectMedicineen_US
dc.subjectClinical Geneticsen_US
dc.subjectClinical Immunologyen_US
dc.subjectAutoimmune Diseasesen_US
dc.subjectImmune Responseen_US
dc.subjectImmunityen_US
dc.titleM89V Sialic Acid Acetyl Esterase (SIAE) and All Other Non-Synonymous Common Variants of This Gene Are Catalytically Normalen_US
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden_US
dc.relation.journalPLoS ONEen_US
dash.depositing.authorNetravali, Ilka Arun
dc.date.available2013-05-09T15:05:36Z
dc.identifier.doi10.1371/journal.pone.0053453*
dash.contributor.affiliatedTaylor, Kendra N
dash.contributor.affiliatedNetravali, Ilka
dash.contributor.affiliatedPillai, Shiv


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record